Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Otospondylomegaepiphyseal dysplasia | COL11A2 | disease | C4520892 | Biomarker | 1 | disgenet |
Otospondylomegaepiphyseal dysplasia | COL11A2 | disease | C4520892 | GermlineCausalMutation | 1 | disgenet |
Otospondylomegaepiphyseal dysplasia | COL11A2 | disease | C4520892 | GeneticVariation | 1 | disgenet |
Otospondylomegaepiphyseal dysplasia | COL11A2 | disease | C4520892 | CausalMutation | 1 | disgenet |
Otospondylomegaepiphyseal dysplasia | COL2A1 | disease | C4520892 | CausalMutation | 0.61 | disgenet |
Otospondylomegaepiphyseal dysplasia | COL2A1 | disease | C4520892 | GeneticVariation | 0.61 | disgenet |
Otospondylomegaepiphyseal dysplasia | COL2A1 | disease | C4520892 | Biomarker | 0.61 | disgenet |
Otospondylomegaepiphyseal dysplasia | DPP4 | disease | C4520892 | Biomarker | 0.01 | disgenet |
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